cystinosis

简明释义

英[ˌsɪstəˈnəʊsɪs]美[sɪstɪˈnoʊsɪs]

n. [医] 胱氨酸病

英英释义

单词用法

同义词

反义词

例句

1.Genetic counseling. Cystinosis is inherited in an autosomal recessive manner.

胱氨酸病是以常染色体隐性方式遗传。

2.Genetic counseling. Cystinosis is inherited in an autosomal recessive manner.

胱氨酸病是以常染色体隐性方式遗传。

3.Children diagnosed with cystinosis often require lifelong treatment to manage their condition.

被诊断为囊性肾病的儿童通常需要终身治疗来管理他们的病情。

4.The symptoms of cystinosis can include kidney problems and eye issues due to crystal deposits.

由于结晶沉积，囊性肾病的症状可能包括肾脏问题和眼部问题。

5.A special diet may help patients with cystinosis maintain better health.

特殊饮食可能有助于囊性肾病患者保持更好的健康。

6.Regular check-ups are essential for those living with cystinosis to monitor their kidney function.

定期检查对那些患有囊性肾病的人来说至关重要，以监测他们的肾功能。

7.New treatments for cystinosis are being researched to improve quality of life.

针对囊性肾病的新治疗方法正在研究中，以改善生活质量。

作文

Cystinosis is a rare genetic disorder that affects the body's ability to transport cystine, an amino acid, out of lysosomes. Lysosomes are cellular organelles that break down waste materials and cellular debris. In individuals with cystinosis">cystinosis, cystine accumulates in the lysosomes, leading to toxic levels that can damage various organs and tissues. The condition primarily affects the kidneys, eyes, and other organs, resulting in a range of health complications. The symptoms of cystinosis">cystinosis typically manifest in childhood, often between the ages of 2 and 4. One of the earliest signs is renal tubular Fanconi syndrome, which is characterized by the kidneys' inability to reabsorb certain substances, such as glucose, phosphate, and bicarbonate. As a result, children may experience growth delays, bone abnormalities, and excessive thirst and urination. In addition to kidney problems, cystinosis">cystinosis can also lead to ocular complications. Patients often develop corneal deposits of cystine, which can cause severe light sensitivity and vision problems. If left untreated, these deposits can result in significant visual impairment or even blindness. Furthermore, individuals with cystinosis">cystinosis may also face challenges related to their endocrine system, including hypothyroidism and delayed puberty. The diagnosis of cystinosis">cystinosis is typically made through a combination of clinical evaluation, family history, and laboratory tests. A definitive diagnosis can be confirmed by measuring cystine levels in white blood cells or by genetic testing to identify mutations in the CTNS gene, which is responsible for the condition. Treatment for cystinosis">cystinosis focuses on managing symptoms and preventing complications. The most effective treatment is the use of cystine-depleting medications, such as cysteamine. Cysteamine helps to reduce cystine levels in the body by promoting its release from lysosomes. Patients usually start this medication in early childhood and continue it throughout their lives. In addition to pharmacological treatment, patients with cystinosis">cystinosis require regular monitoring of kidney function and other potential complications. This may include routine eye examinations to assess corneal deposits and vision changes. Nutritional support is also important, as individuals with cystinosis">cystinosis may need dietary modifications to manage their condition effectively. In summary, cystinosis">cystinosis is a serious genetic disorder that requires lifelong management. Early diagnosis and intervention are crucial to minimizing complications and improving the quality of life for affected individuals. Ongoing research continues to explore new treatment options and potential therapies to enhance outcomes for those living with cystinosis">cystinosis. Awareness and education about this condition are essential for healthcare providers, patients, and families to ensure timely diagnosis and appropriate care.

cystinosis">囊性肾病是一种罕见的遗传性疾病，影响身体运输半胱氨酸（一种氨基酸）排出溶酶体的能力。溶酶体是细胞器，负责分解废物和细胞残骸。在患有cystinosis">囊性肾病的个体中，半胱氨酸在溶酶体中积累，导致毒性水平，可能损害各种器官和组织。该病主要影响肾脏、眼睛和其他器官，导致一系列健康并发症。 cystinosis">囊性肾病的症状通常在儿童时期出现，通常在2到4岁之间。最早的迹象之一是肾小管性范可尼综合症，其特征是肾脏无法重吸收某些物质，如葡萄糖、磷酸盐和碳酸氢盐。因此，孩子们可能会经历生长迟缓、骨骼异常以及过度口渴和排尿。 除了肾脏问题，cystinosis">囊性肾病还可能导致眼部并发症。患者通常会在角膜中形成半胱氨酸沉积，这可能导致严重的光敏感和视力问题。如果不加以治疗，这些沉积物可能导致显著的视觉障碍甚至失明。此外，患有cystinosis">囊性肾病的个体可能还面临内分泌系统相关的挑战，包括甲状腺功能减退和青春期延迟。 cystinosis">囊性肾病的诊断通常通过临床评估、家族史和实验室检查的组合来进行。可以通过测量白细胞中的半胱氨酸水平或通过基因检测确认确诊，以识别CTNS基因中的突变，该基因负责该疾病。 cystinosis">囊性肾病的治疗重点在于管理症状和预防并发症。最有效的治疗是使用去半胱氨酸药物，如半胱氨酸。半胱氨酸通过促进半胱氨酸从溶酶体释放来帮助降低体内的半胱氨酸水平。患者通常在儿童早期开始使用这种药物，并在一生中继续使用。 除了药物治疗，患有cystinosis">囊性肾病的患者需要定期监测肾功能和其他潜在并发症。这可能包括定期眼科检查，以评估角膜沉积和视力变化。营养支持也很重要，因为患有cystinosis">囊性肾病的个体可能需要饮食调整以有效管理其病情。 总之，cystinosis">囊性肾病是一种严重的遗传疾病，需要终身管理。早期诊断和干预对于减少并发症和改善受影响个体的生活质量至关重要。持续的研究仍在探索新的治疗选择和潜在疗法，以提高生活在cystinosis">囊性肾病患者的结果。对这种疾病的意识和教育对于医疗提供者、患者和家庭至关重要，以确保及时诊断和适当护理。